Avi Orr-Urtreger : rechercher sur Z-Library

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1

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations

Nancy Gavert, Yuval Yaron, Tova Naiman, Dani Bercovich, Paul Rozen, Ruth Shomrat, Cyril Legum, Avi Orr-Urtreger

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 163 KB

english, 2002

2

Initial experience of videocapsule endoscopy for diagnosing small-bowel tumors in patients with GI polyposis syndromes

Olga Barkay, Menachem Moshkowitz, Zvi Fireman, Eliahu Shemesh, Orit Goldray, Miri Revivo, Ada Kessler, Zamir Halpern, Avi Orr-Urtreger, Nadir Arber

Journal:

Gastrointestinal Endoscopy

Année:

2005

Langue:

english

Fichier:

PDF, 98 KB

english, 2005

3

Screening for Familial Dysautonomia in Israel: Evidence for Higher Carrier Rate among Polish Ashkenazi Jews

Lehavi, Ofer, Aizenstein, Orna, Bercovich, Dani, Pavzner, Dina, Shomrat, Ruth, Orr-Urtreger, Avi, Yaron, Yuval

Journal:

Genetic Testing

Année:

2003

Langue:

english

Fichier:

PDF, 101 KB

english, 2003

4

Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics

Goldstein, Orly, Kedmi, Merav, Gana-Weisz, Mali, Twito, Shir, Nefussy, Beatrice, Vainer, Batel, Fainmesser, Yaara, Abraham, Alon, Nayshool, Omri, Orr-Urtreger, Avi, Drory, Vivian E.

Journal:

Journal of the Neurological Sciences

Année:

2019

Langue:

english

Fichier:

PDF, 238 KB

english, 2019

5

MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

Yuval Yaron, Bruria Ben Zeev, Ruth Shomrat, Dani Bercovich, Tova Naiman, Avi Orr-Urtreger

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 92 KB

english, 2002

6

Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome

Yuval Yaron, Sigal Heifetz, Yifat Ochshorn, Ofer Lehavi, Avi Orr-Urtreger

Journal:

Prenatal Diagnosis

Année:

2002

Langue:

english

Fichier:

PDF, 86 KB

english, 2002

7

A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews

Shay Ben-Shachar, Tal Zvi, Arndt Rolfs, Andrea Breda Klobus, Yuval Yaron, Anat Bar-Shira, Avi Orr-Urtreger

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 475 KB

english, 2012

8

Subunit composition of α5-containing nicotinic receptors in the rodent habenula

Petra Scholze, Gabriele Koth, Avi Orr-Urtreger, Sigismund Huck

Journal:

Journal of Neurochemistry

Année:

2012

Langue:

english

Fichier:

PDF, 519 KB

english, 2012

9

A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers

Thaler, Avner, Artzi, Moran, Mirelman, Anat, Jacob, Yael, Helmich, Rick C., van Nuenen, Bart F.L., Gurevich, Tanya, Orr-Urtreger, Avi, Marder, Karen, Bressman, Susan, Bloem, Bastiaan R., Hendler, Talm

Journal:

Movement Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 174 KB

english, 2014

10

A “dose” effect of mutations in the GBA gene on Parkinson's disease phenotype

Thaler, Avner, Gurevich, Tanya, Bar Shira, Anat, Gana Weisz, Mali, Ash, Elissa, Shiner, Tamara, Orr-Urtreger, Avi, Giladi, Nir, Mirelman, Anat

Journal:

Parkinsonism & Related Disorders

Année:

2017

Langue:

english

Fichier:

PDF, 380 KB

english, 2017

11

Distinguishing Dementia With Lewy Bodies From Alzheimer Disease

Bregman, Noa, Kavé, Gitit, Mirelman, Anat, Thaler, Avner, Gana Weisz, Mali, Bar-Shira, Anat, Orr-Urtreger, Avi, Giladi, Nir, Shiner, Tamara

Journal:

Alzheimer Disease & Associated Disorders

Année:

2019

Fichier:

PDF, 106 KB

2019

12

Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings

Katherine M. Hegmann, Aimee S. Spikes, Avi Orr-Urtreger, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Année:

1996

Fichier:

PDF, 544 KB

1996

13

Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring

Shapira, Stuart K., Orr-Urtreger, Avi, Gagos, Sarantis, Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 277 KB

english, 1997

14

Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

Yoram Nevo, Ruth Shomrat, Yuval Yaron, Avi Orr-Urtreger, Shaul Harel, Cyril Legum

Journal:

Prenatal Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 184 KB

english, 1999

15

Gait alterations in healthy carriers of the LRRK2 G2019S mutation

Anat Mirelman, Tanya Gurevich, Nir Giladi, Anat Bar-Shira, Avi Orr-Urtreger, Jeffrey M. Hausdorff

Journal:

Annals of Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2011

16

Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia : Evidence for a founder effect

Paul Rozen, Tova Naiman, Hana Strul, Philipp Taussky, Nataly Karminsky, Ruth Shomrat, Ziona Samuel, Yuval Yaron, Avi Orr-Urtreger

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 92 KB

english, 2002

17

α4β2 nicotinic acetylcholine receptors in the early postnatal mouse superior cervical ganglion

Petra Scholze, Anna Ciuraszkiewicz, Florian Groessl, Avi Orr-Urtreger, J. Michael McIntosh, Sigismund Huck

Journal:

Developmental Neurobiology

Année:

2011

Langue:

english

Fichier:

PDF, 462 KB

english, 2011

18

FGFR1 over-expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5′ CpG Island and abnormal expression of the AKT1, NOG, and BMP4 genes

Myriam Goldstein, Isaac Meller, Avi Orr-Urtreger

Journal:

Genes, Chromosomes and Cancer

Année:

2007

Langue:

english

Fichier:

PDF, 409 KB

english, 2007

19

Cytogenetic analysis of 101 skull base tumors

Ziv Gil, Avi Orr-Urtreger, Nadia Voskoboinik, Leonor Trejo-Leider, Ruth Shomrat, Dan M. Fliss

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 289 KB

english, 2008

20

Novel mutations in the emerin gene in Israeli families

Yoram Nevo, Sarit Ahituv, Yuval Yaron, Merav Kedmi, Ruth Shomrat, Cyril Legum, Avi Orr-Urtreger

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 34 KB

english, 2001

21

Mice Homozygous for the L250T Mutation in the α7 Nicotinic Acetylcholine Receptor Show Increased Neuronal Apoptosis and Die Within 1 Day of Birth

Avi Orr-Urtreger, Ron S. Broide, Michael R. Kasten, Hong Dang, John A. Dani, Arthur L. Beaudet, James W. Patrick

Journal:

Journal of Neurochemistry

Année:

2000

Langue:

english

Fichier:

PDF, 673 KB

english, 2000

22

Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease

Merav Kedmi, Anat Bar-Shira, Tanya Gurevich, Nir Giladi, Avi Orr-Urtreger

Journal:

Molecular Neurodegeneration

Année:

2011

Langue:

english

Fichier:

PDF, 631 KB

english, 2011

23

First trimester PAPP-A in the detection of non-Down syndrome aneuploidy

Yifat Ochshorn, Michael J. Kupferminc, Igal Wolman, Avi Orr-Urtreger, Ariel J. Jaffa, Yuval Yaron

Journal:

Prenatal Diagnosis

Année:

2001

Langue:

english

Fichier:

PDF, 48 KB

english, 2001

24

Effect of fetal gender on first trimester markers and on Down syndrome screening

Yuval Yaron, Igal Wolman, Michael J. Kupferminc, Yifat Ochshorn, Ariel Many, Avi Orr-Urtreger

Journal:

Prenatal Diagnosis

Année:

2001

Langue:

english

Fichier:

PDF, 52 KB

english, 2001

25

The clinical application of spectral karyotyping (SKY™) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs)

Yuval Yaron, Erez Carmon, Myriam Goldstein, Nadia Voskoboinik, Yifat Ochshorn, Zully Gelman-Kohan, Avi Orr-Urtreger

Journal:

Prenatal Diagnosis

Année:

2003

Langue:

english

Fichier:

PDF, 175 KB

english, 2003

26

Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6

Anat Bar-Shira, Noa Matarasso, Serena Rosner, Dani Bercovich, Haim Matzkin, Avi Orr-Urtreger

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 244 KB

english, 2006

27

The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1α is associated with increased risk for prostate cancer

Avi Orr-Urtreger, Anat Bar-Shira, Haim Matzkin, Nicola J. Mabjeesh

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 157 KB

english, 2007

28

Interspecies comparison of prostate cancer gene-expression profiles reveals genes associated with aggressive tumors

Itai Kela, Alon Harmelin, Tova Waks, Avi Orr-Urtreger, Eytan Domany, Zelig Eshhar

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 358 KB

english, 2009

29

TheLRRK2G2019S mutation as the cause of Parkinson’s disease in Ashkenazi Jews

Avner Thaler, Elissa Ash, Ziv Gan-Or, Avi Orr-Urtreger, Nir Giladi

Journal:

Journal of Neural Transmission

Année:

2009

Langue:

english

Fichier:

PDF, 218 KB

english, 2009

30

Ashkenazi Parkinson’s disease patients with theLRRK2G2019S mutation share a common founder dating from the second to fifth centuries

Anat Bar-Shira, Carolyn M. Hutter, Nir Giladi, Cyrus P. Zabetian, Avi Orr-Urtreger

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 111 KB

english, 2009

31

Homozygosity for theMTX1c.184T>A (p.S63T) alteration modifies the age of onset inGBA-associated Parkinson's disease

Ziv Gan-Or, Anat Bar-Shira, Tanya Gurevich, Nir Giladi, Avi Orr-Urtreger

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 248 KB

english, 2011

32

Being ‘at-risk’ for developing cancer: cognitive representations and psychological outcomes

Shoshana Shiloh, Erga Drori, Avi Orr-Urtreger, Eitan Friedman

Journal:

Journal of Behavioral Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 289 KB

english, 2009

33

The effects of aging vs. α7 nAChR subunit deficiency on the mouse brain transcriptome: aging beats the deficiency

Merav Kedmi, Avi Orr-Urtreger

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 446 KB

english, 2011

34

The Age at Motor Symptoms Onset inLRRK2-Associated Parkinson's Disease is Affected by a Variation in theMAPTLocus: A Possible Interaction

Ziv Gan-Or, Anat Bar-Shira, Anat Mirelman, Tanya Gurevich, Nir Giladi, Avi Orr-Urtreger

Journal:

Journal of Molecular Neuroscience

Année:

2012

Langue:

english

Fichier:

PDF, 108 KB

english, 2012

35

Biochemical and functional properties of distinct nicotinic acetylcholine receptors in the superior cervical ganglion of mice with targeted deletions of nAChR subunit genes

Reinhard David, Anna Ciuraszkiewicz, Xenia Simeone, Avi Orr-Urtreger, Roger L. Papke, J. M. McIntosh, Sigismund Huck, Petra Scholze

Journal:

European Journal of Neuroscience

Année:

2010

Langue:

english

Fichier:

PDF, 529 KB

english, 2010

36

Advances in the genetics of Parkinson's disease

Serena ROSNER, Nir GILADI, Avi ORR-URTREGER

Journal:

Acta Pharmacologica Sinica

Année:

2008

Langue:

english

Fichier:

PDF, 213 KB

english, 2008

37

Central Role of Fibroblast α3 Nicotinic Acetylcholine Receptor in Mediating Cutaneous Effects of Nicotine

Arredondo, Juan, Hall, Leon L, Ndoye, Assane, Nguyen, Vu Thuong, Chernyavsky, Alexander I, Bercovich, Dani, Orr-Urtreger, Avi, Beaudet, Arthur L, Grando, Sergei A

Journal:

Laboratory Investigation

Année:

2003

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2003

38

Autonomic function in mice lacking α5 neuronal nicotinic acetylcholine receptor subunit

Ningshan Wang, Avi Orr-Urtreger, Joab Chapman, Ruth Rabinowitz, Rachel Nachman, Amos D. Korczyn

Journal:

The Journal of Physiology

Année:

2002

Langue:

english

Fichier:

PDF, 168 KB

english, 2002

39

Selective deletion of the α5 subunit differentially affects somatic–dendritic versus axonally targeted nicotinic ACh receptors in mouse

Harald Fischer, Avi Orr-Urtreger, Lorna W. Role, Sigismund Huck

Journal:

The Journal of Physiology

Année:

2005

Langue:

english

Fichier:

PDF, 403 KB

english, 2005

40

Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

Paul Rozen, Ziona Samuel, Micha Rabau, Gideon Goldman, Ruth Shomrat, Cyril Legum, Avi Orr-Urtreger

Journal:

Familial Cancer

Année:

2001

Langue:

english

Fichier:

PDF, 182 KB

english, 2001

41

Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population

Mordechai Shohat, Helena Frimer, Vered Shohat-Levy, Hormoz Esmailzadeh, Zvi Appelman, Ziva Ben-Neriah, Hanna Dar, Avi Orr-Urtreger, Aliza Amiel, Ruth Gershoni, Esther Manor, Gad Barkai, Stavit Shalev,

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 105 KB

english, 2003

42

Quantitative fluorescence polymerase chain reaction (QF-PCR) for rapid prenatal diagnosis of aneuploidy

Yifat Ochshorn, Anat Bar Shira, Anat Jonish, Joseph B Lessing, David Pauzner, Oren Ezer, Mark Evans, Avi Orr-urtreger, Yuval Yaron

Journal:

American Journal of Obstetrics and Gynecology

Année:

2004

Langue:

english

Fichier:

PDF, 77 KB

english, 2004

43

Cytogenetic analysis of three variants of clival chordoma

Ziv Gil, Dan M. Fliss, Nadia Voskoboinik, Leonor Leider-Trejo, Sergey Spektor, Yuval Yaron, Avi Orr-Urtreger

Journal:

Cancer Genetics and Cytogenetics

Année:

2004

Langue:

english

Fichier:

PDF, 499 KB

english, 2004

44

26 Fetal gender impact on maternal serum human chorionic gonadotropin in early pregnancy

Yuval Yaron, Ofer Lehavi, Avi Orr-Urtreger, Yifat Ochshorn, Ilan Gull, Joseph B. Lessing, Ami Amit, Dalit Ben Yosef

Journal:

American Journal of Obstetrics and Gynecology

Année:

2001

Langue:

english

Fichier:

PDF, 39 KB

english, 2001

45

Combined cytogenetic and array-based comparative genomic hybridization analyses of Wilms tumors: amplification and overexpression of the multidrug resistance associated protein 1 gene (MRP1) in a metachronous tumor

Myriam Goldstein, Hanna Rennert, Anat Bar-Shira, Yoav Burstein, Yuval Yaron, Avi Orr-Urtreger

Journal:

Cancer Genetics and Cytogenetics

Année:

2003

Langue:

english

Fichier:

PDF, 314 KB

english, 2003

46

Two novel translocations, t(2;4)(q35;q31) and t(X;12)(q22;q24), as the only karyotypic abnormalities in a malignant peripheral nerve sheath tumor of the skull base

Ziv Gil, Dan M Fliss, Nadia Voskoboimik, Leonor Trejo-Leider, Avi Khafif, Yuval Yaron, Avi Orr-Urtreger

Journal:

Cancer Genetics and Cytogenetics

Année:

2003

Langue:

english

Fichier:

PDF, 215 KB

english, 2003

47

Developmental Localization of the Splicing Alternatives of Fibroblast Growth Factor Receptor-2 (FGFR2)

Avi Orr-Urtreger, Mark T. Bedford, Tatjana Burakova, Esther Arman, Yitzhak Zimmer, Avner Yayon, David Givol, Peter Lonai

Journal:

Developmental Biology

Année:

1993

Fichier:

PDF, 1.93 MB

1993

48

Cloning and mapping of the mouse α7-neuronal nicotinic acetylcholine receptor

Avi Orr-Urtreger, Michael F. Seldin, Antonio Baldini, Arthur L. Beaudet

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 385 KB

english, 1995

49

Lower core body temperature and attenuated nicotine-induced hypothermic response in mice lacking the β4 neuronal nicotinic acetylcholine receptor subunit

Ram Sack, Alona Gochberg-Sarver, Uri Rozovsky, Merav Kedmi, Serena Rosner, Avi Orr-Urtreger

Journal:

Brain Research Bulletin

Année:

2005

Langue:

english

Fichier:

PDF, 280 KB

english, 2005

50

Corrigendum to “Functional role of α7 nicotinic receptor in physiological control of cutaneous homeostasis” [Life Science 72 (2003) 2063–2067]

Juan Arredondo, Vu Thuong Nguyen, Alexander I Chernyavsky, Dani Bercovich, Avi Orr-Urtreger, Douglas E Vetter, Sergei A Grando

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 54 KB

english, 2004